Blue Rubber Bleb Nevus Syndrome
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by gastrointestinal and cutaneous hemangiomas. Patients typically present with gastrointestinal bleeding and anemia. Management of gastrointestinal bleeding may be challenging, since these lesions may be diffusely distributed throughout the gastrointestinal tract. The most common location is the small bowel, and recurrence is common. We describe a patient with BRBNS and lower gastrointestinal bleeding resulting from a large pelvic hemangioma eroding into the rectal wall.
Blue rubber bleb nevus syndrome is characterized by gastrointestinal and cutaneous vascular malformations. Although it was first recognized by Gascoyen in 1860, it was not until 1958 that Bean coined the term blue rubber bleb nevus syndrome (BRBNS), since the skin lesions characteristically look and feel like blue rubber nipples. These cavernous hemangiomas are usually evident soon after birth or by early childhood, and new lesions may appear throughout life. Sporadic occurrence is most common, but autosomal dominant inheritance with variable female penetrance has been reported.
While the cutaneous hemangiomas can be large and disfiguring, they are usually asymptomatic and often pose only a cosmetic problem. These patients are clinically challenging because of acute and chronic gastrointestinal bleeding.
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by gastrointestinal and cutaneous hemangiomas. Patients typically present with gastrointestinal bleeding and anemia. Management of gastrointestinal bleeding may be challenging, since these lesions may be diffusely distributed throughout the gastrointestinal tract. The most common location is the small bowel, and recurrence is common. We describe a patient with BRBNS and lower gastrointestinal bleeding resulting from a large pelvic hemangioma eroding into the rectal wall.
Blue rubber bleb nevus syndrome is characterized by gastrointestinal and cutaneous vascular malformations. Although it was first recognized by Gascoyen in 1860, it was not until 1958 that Bean coined the term blue rubber bleb nevus syndrome (BRBNS), since the skin lesions characteristically look and feel like blue rubber nipples. These cavernous hemangiomas are usually evident soon after birth or by early childhood, and new lesions may appear throughout life. Sporadic occurrence is most common, but autosomal dominant inheritance with variable female penetrance has been reported.
While the cutaneous hemangiomas can be large and disfiguring, they are usually asymptomatic and often pose only a cosmetic problem. These patients are clinically challenging because of acute and chronic gastrointestinal bleeding.
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